Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01081:Nlrp9a'

51469

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp9a

Ensembl Gene

ENSMUSG00000054102

Gene Name

NLR family, pyrin domain containing 9A

Synonyms

Nalp9a, Nalp-theta, D7Ertd565e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL01081

Quality Score

Status

Chromosome

Chromosomal Location

26234448-26273573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26257519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 290 (N290I)

Ref Sequence

ENSEMBL: ENSMUSP00000120498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071780] [ENSMUST00000108387] [ENSMUST00000117252] [ENSMUST00000122040] [ENSMUST00000153452]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071780
AA Change: N379I

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: N379I

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	1e-32	PFAM
LRR	637	664	1.42e0	SMART
LRR	693	720	2.32e-1	SMART
LRR	722	749	3e0	SMART
LRR	750	777	1.12e-3	SMART
LRR	779	806	2.17e0	SMART
LRR	807	834	2.27e-4	SMART
LRR	836	863	2.02e2	SMART
LRR	864	891	6.24e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108387
AA Change: N379I

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: N379I

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	7.7e-33	PFAM
LRR	631	658	1.42e0	SMART
LRR	692	719	1.42e0	SMART
LRR	748	775	2.32e-1	SMART
LRR	777	804	3e0	SMART
LRR	805	832	1.12e-3	SMART
LRR	834	861	2.17e0	SMART
LRR	862	889	2.27e-4	SMART
LRR	891	918	2.02e2	SMART
LRR	919	946	6.24e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117252
AA Change: N379I

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102
AA Change: N379I

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	8.8e-34	PFAM
LRR	637	664	1.42e0	SMART
Blast:LRR	666	692	1e-5	BLAST
LRR	693	720	2.32e-1	SMART
LRR	722	749	3e0	SMART
LRR	750	777	1.12e-3	SMART
LRR	779	806	2.39e0	SMART
LRR	807	834	6.24e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122040
AA Change: N379I

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: N379I

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	1e-32	PFAM
LRR	637	664	1.42e0	SMART
LRR	693	720	2.32e-1	SMART
LRR	722	749	3e0	SMART
LRR	750	777	1.12e-3	SMART
LRR	779	806	2.17e0	SMART
LRR	807	834	2.27e-4	SMART
LRR	836	863	2.02e2	SMART
LRR	864	891	6.24e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143149

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153452
AA Change: N290I

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: N290I

Domain	Start	End	E-Value	Type
Pfam:NACHT	54	222	6.9e-33	PFAM
LRR	542	569	1.42e0	SMART
LRR	603	630	1.42e0	SMART
Blast:LRR	632	657	1e-5	BLAST
LRR	659	686	2.32e-1	SMART
LRR	688	715	3e0	SMART
LRR	716	743	1.12e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,901,890 (GRCm39)	L158P	probably damaging	Het
Aco1	A	G	4: 40,197,576 (GRCm39)	Q860R	probably benign	Het
Actl11	A	T	9: 107,806,181 (GRCm39)	Q168L	possibly damaging	Het
Adam26b	T	C	8: 43,972,975 (GRCm39)	I676V	probably benign	Het
Aldoart2	A	C	12: 55,612,920 (GRCm39)	I282L	probably benign	Het
Capns1	G	T	7: 29,889,565 (GRCm39)	S211R	probably benign	Het
Cps1	T	C	1: 67,245,983 (GRCm39)	V1158A	probably damaging	Het
Cryl1	C	T	14: 57,523,821 (GRCm39)		probably null	Het
Cxcr5	A	G	9: 44,425,607 (GRCm39)		probably benign	Het
Dcaf13	A	G	15: 38,982,201 (GRCm39)	K56E	probably damaging	Het
Dlx6	T	G	6: 6,867,068 (GRCm39)	S85A	probably damaging	Het
Dsg2	C	T	18: 20,722,999 (GRCm39)		probably benign	Het
Dync1li1	T	A	9: 114,549,665 (GRCm39)	S412T	possibly damaging	Het
Ebf3	C	A	7: 136,827,625 (GRCm39)		probably benign	Het
Fads3	T	C	19: 10,030,366 (GRCm39)	I168T	probably benign	Het
Gm10295	G	A	7: 71,000,296 (GRCm39)	P95S	unknown	Het
Gm43638	T	C	5: 87,634,455 (GRCm39)	T51A	probably damaging	Het
Gm5114	G	A	7: 39,060,071 (GRCm39)		probably benign	Het
Gucy2c	G	A	6: 136,679,737 (GRCm39)	T974M	probably damaging	Het
Ighv1-19-1	T	C	12: 114,672,258 (GRCm39)		probably benign	Het
Kri1	A	T	9: 21,191,723 (GRCm39)	L173Q	probably damaging	Het
Lztfl1	T	C	9: 123,531,338 (GRCm39)	D210G	probably benign	Het
Morc2a	T	A	11: 3,638,149 (GRCm39)	N958K	probably damaging	Het
Msl3l2	G	A	10: 55,992,021 (GRCm39)	A249T	probably benign	Het
Nlrp4a	A	G	7: 26,149,254 (GRCm39)	E287G	probably benign	Het
Or2b28	T	G	13: 21,531,185 (GRCm39)	L29R	probably damaging	Het
Or4e2	A	G	14: 52,688,484 (GRCm39)	T205A	probably benign	Het
Or5al6	C	T	2: 85,976,955 (GRCm39)	G41D	probably benign	Het
Pcsk7	A	G	9: 45,840,005 (GRCm39)	D731G	probably benign	Het
Plppr5	T	A	3: 117,480,298 (GRCm39)		probably benign	Het
Podxl	T	C	6: 31,505,639 (GRCm39)	T135A	possibly damaging	Het
Pole	T	G	5: 110,485,106 (GRCm39)	C407G	possibly damaging	Het
Prl	C	A	13: 27,249,024 (GRCm39)	N224K	possibly damaging	Het
Prnp	A	T	2: 131,778,340 (GRCm39)		probably benign	Het
Proser2	A	G	2: 6,105,149 (GRCm39)	*472R	probably null	Het
Rhag	T	C	17: 41,122,178 (GRCm39)	S38P	possibly damaging	Het
Rnf146	T	C	10: 29,223,856 (GRCm39)	D10G	probably damaging	Het
Rps3a1	T	C	3: 86,049,085 (GRCm39)	D29G	probably benign	Het
Sv2a	A	T	3: 96,097,012 (GRCm39)	I446F	probably benign	Het
Tbc1d30	C	A	10: 121,103,319 (GRCm39)	R571L	probably damaging	Het
Tfrc	T	A	16: 32,443,646 (GRCm39)		probably null	Het
Tnfaip1	G	A	11: 78,419,129 (GRCm39)	P156S	probably damaging	Het
Vmn1r226	T	C	17: 20,908,166 (GRCm39)	S133P	probably damaging	Het
Wnt9b	C	T	11: 103,622,836 (GRCm39)	R189K	probably damaging	Het
Ythdc2	A	G	18: 44,983,726 (GRCm39)	H564R	probably benign	Het
Zfp442	C	A	2: 150,251,267 (GRCm39)	E211*	probably null	Het

Other mutations in Nlrp9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Nlrp9a	APN	7	26,257,050 (GRCm39)	missense	probably benign	0.22
IGL00895:Nlrp9a	APN	7	26,258,103 (GRCm39)	missense	probably benign
IGL01148:Nlrp9a	APN	7	26,257,006 (GRCm39)	missense	probably damaging	1.00
IGL01368:Nlrp9a	APN	7	26,257,299 (GRCm39)	missense	probably damaging	1.00
IGL01914:Nlrp9a	APN	7	26,256,689 (GRCm39)	missense	probably benign	0.01
IGL01952:Nlrp9a	APN	7	26,257,444 (GRCm39)	missense	probably benign	0.01
IGL02245:Nlrp9a	APN	7	26,257,318 (GRCm39)	missense	probably benign	0.02
IGL02449:Nlrp9a	APN	7	26,264,396 (GRCm39)	missense	probably benign	0.00
IGL02702:Nlrp9a	APN	7	26,264,381 (GRCm39)	missense	possibly damaging	0.67
IGL02944:Nlrp9a	APN	7	26,258,076 (GRCm39)	missense	probably benign	0.28
IGL03183:Nlrp9a	APN	7	26,256,882 (GRCm39)	missense	probably damaging	1.00
R0005:Nlrp9a	UTSW	7	26,273,213 (GRCm39)	splice site	probably benign
R0007:Nlrp9a	UTSW	7	26,250,515 (GRCm39)	intron	probably benign
R0007:Nlrp9a	UTSW	7	26,250,515 (GRCm39)	intron	probably benign
R0013:Nlrp9a	UTSW	7	26,270,650 (GRCm39)	splice site	probably null
R0086:Nlrp9a	UTSW	7	26,257,972 (GRCm39)	missense	probably damaging	0.98
R0659:Nlrp9a	UTSW	7	26,256,703 (GRCm39)	missense	probably damaging	1.00
R1126:Nlrp9a	UTSW	7	26,260,166 (GRCm39)	missense	probably benign	0.12
R1500:Nlrp9a	UTSW	7	26,267,316 (GRCm39)	missense	probably benign	0.01
R1585:Nlrp9a	UTSW	7	26,258,093 (GRCm39)	missense	probably benign	0.41
R1594:Nlrp9a	UTSW	7	26,269,932 (GRCm39)	nonsense	probably null
R1968:Nlrp9a	UTSW	7	26,264,366 (GRCm39)	missense	probably benign	0.23
R1989:Nlrp9a	UTSW	7	26,273,338 (GRCm39)	missense	probably benign	0.24
R2057:Nlrp9a	UTSW	7	26,256,787 (GRCm39)	missense	possibly damaging	0.55
R2058:Nlrp9a	UTSW	7	26,256,787 (GRCm39)	missense	possibly damaging	0.55
R2059:Nlrp9a	UTSW	7	26,256,787 (GRCm39)	missense	possibly damaging	0.55
R2188:Nlrp9a	UTSW	7	26,264,354 (GRCm39)	missense	probably damaging	1.00
R2318:Nlrp9a	UTSW	7	26,273,277 (GRCm39)	missense	probably damaging	0.98
R3110:Nlrp9a	UTSW	7	26,257,297 (GRCm39)	missense	probably benign	0.08
R3112:Nlrp9a	UTSW	7	26,257,297 (GRCm39)	missense	probably benign	0.08
R3237:Nlrp9a	UTSW	7	26,270,810 (GRCm39)	nonsense	probably null
R3545:Nlrp9a	UTSW	7	26,256,757 (GRCm39)	missense	probably benign	0.03
R3805:Nlrp9a	UTSW	7	26,264,277 (GRCm39)	nonsense	probably null
R4005:Nlrp9a	UTSW	7	26,257,975 (GRCm39)	missense	probably benign	0.02
R4057:Nlrp9a	UTSW	7	26,270,071 (GRCm39)	missense	probably benign	0.00
R4529:Nlrp9a	UTSW	7	26,270,832 (GRCm39)	missense	probably damaging	1.00
R4756:Nlrp9a	UTSW	7	26,256,866 (GRCm39)	missense	probably damaging	1.00
R4908:Nlrp9a	UTSW	7	26,250,369 (GRCm39)	missense	probably damaging	1.00
R4972:Nlrp9a	UTSW	7	26,269,964 (GRCm39)	missense	probably damaging	1.00
R4992:Nlrp9a	UTSW	7	26,256,811 (GRCm39)	missense	probably benign	0.00
R5042:Nlrp9a	UTSW	7	26,270,703 (GRCm39)	missense	probably damaging	1.00
R5224:Nlrp9a	UTSW	7	26,256,717 (GRCm39)	missense	probably benign	0.43
R5449:Nlrp9a	UTSW	7	26,257,254 (GRCm39)	missense	probably benign	0.04
R5644:Nlrp9a	UTSW	7	26,257,993 (GRCm39)	missense	possibly damaging	0.51
R5734:Nlrp9a	UTSW	7	26,270,065 (GRCm39)	missense	probably damaging	1.00
R5905:Nlrp9a	UTSW	7	26,257,762 (GRCm39)	missense	probably benign	0.02
R5978:Nlrp9a	UTSW	7	26,256,703 (GRCm39)	missense	probably damaging	1.00
R6028:Nlrp9a	UTSW	7	26,257,762 (GRCm39)	missense	probably benign	0.02
R6066:Nlrp9a	UTSW	7	26,257,510 (GRCm39)	missense	probably benign	0.00
R6082:Nlrp9a	UTSW	7	26,267,402 (GRCm39)	missense	probably benign	0.41
R6171:Nlrp9a	UTSW	7	26,258,188 (GRCm39)	missense	possibly damaging	0.71
R6352:Nlrp9a	UTSW	7	26,257,051 (GRCm39)	missense	probably damaging	1.00
R6490:Nlrp9a	UTSW	7	26,250,311 (GRCm39)	missense	probably damaging	1.00
R6540:Nlrp9a	UTSW	7	26,256,817 (GRCm39)	missense	possibly damaging	0.88
R7039:Nlrp9a	UTSW	7	26,267,367 (GRCm39)	missense	probably benign	0.03
R7151:Nlrp9a	UTSW	7	26,256,672 (GRCm39)	nonsense	probably null
R7173:Nlrp9a	UTSW	7	26,257,603 (GRCm39)	missense	probably benign	0.00
R7214:Nlrp9a	UTSW	7	26,250,463 (GRCm39)	missense	probably damaging	0.98
R7226:Nlrp9a	UTSW	7	26,258,149 (GRCm39)	missense	probably benign	0.02
R7250:Nlrp9a	UTSW	7	26,258,143 (GRCm39)	missense	possibly damaging	0.78
R7293:Nlrp9a	UTSW	7	26,270,694 (GRCm39)	missense	probably damaging	1.00
R7492:Nlrp9a	UTSW	7	26,257,081 (GRCm39)	missense	probably damaging	0.99
R7586:Nlrp9a	UTSW	7	26,256,721 (GRCm39)	missense	possibly damaging	0.83
R7844:Nlrp9a	UTSW	7	26,262,006 (GRCm39)	missense	possibly damaging	0.82
R8073:Nlrp9a	UTSW	7	26,260,260 (GRCm39)	missense	probably damaging	0.98
R8136:Nlrp9a	UTSW	7	26,256,678 (GRCm39)	missense	probably benign	0.34
R8400:Nlrp9a	UTSW	7	26,264,431 (GRCm39)	missense	probably benign	0.02
R8415:Nlrp9a	UTSW	7	26,256,925 (GRCm39)	missense	probably benign
R8774:Nlrp9a	UTSW	7	26,257,984 (GRCm39)	missense	possibly damaging	0.95
R8774-TAIL:Nlrp9a	UTSW	7	26,257,984 (GRCm39)	missense	possibly damaging	0.95
R8882:Nlrp9a	UTSW	7	26,257,703 (GRCm39)	nonsense	probably null
R9023:Nlrp9a	UTSW	7	26,273,291 (GRCm39)	missense	possibly damaging	0.62
R9031:Nlrp9a	UTSW	7	26,257,698 (GRCm39)	missense	probably damaging	1.00
R9063:Nlrp9a	UTSW	7	26,273,291 (GRCm39)	missense	possibly damaging	0.62
R9090:Nlrp9a	UTSW	7	26,261,944 (GRCm39)	missense	probably benign
R9196:Nlrp9a	UTSW	7	26,258,158 (GRCm39)	missense	probably damaging	1.00
R9206:Nlrp9a	UTSW	7	26,257,656 (GRCm39)	missense	possibly damaging	0.91
R9265:Nlrp9a	UTSW	7	26,258,038 (GRCm39)	missense	possibly damaging	0.67
R9271:Nlrp9a	UTSW	7	26,261,944 (GRCm39)	missense	probably benign
R9384:Nlrp9a	UTSW	7	26,258,158 (GRCm39)	missense	probably damaging	1.00
R9402:Nlrp9a	UTSW	7	26,270,030 (GRCm39)	missense	possibly damaging	0.81
R9424:Nlrp9a	UTSW	7	26,260,178 (GRCm39)	missense	probably benign	0.13
R9620:Nlrp9a	UTSW	7	26,250,469 (GRCm39)	missense	probably damaging	1.00
R9660:Nlrp9a	UTSW	7	26,256,915 (GRCm39)	missense	probably damaging	1.00
R9696:Nlrp9a	UTSW	7	26,275,033 (GRCm39)	missense	unknown
R9728:Nlrp9a	UTSW	7	26,256,915 (GRCm39)	missense	probably damaging	1.00
R9744:Nlrp9a	UTSW	7	26,267,266 (GRCm39)	missense	probably benign	0.07
R9794:Nlrp9a	UTSW	7	26,264,302 (GRCm39)	missense	probably benign	0.03
Z1176:Nlrp9a	UTSW	7	26,257,654 (GRCm39)	missense	probably damaging	1.00
Z1177:Nlrp9a	UTSW	7	26,256,881 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21